Turkish archives of pediatrics最新文献

{"title":"Trigeminal Neuropathy as an Initial Manifestation in Pediatric-Onset Mixed Connective Tissue Disease.","authors":"Deniz Gezgin Yıldırım, Esra Serdaroğlu, Nihal Karaçayır, Çisem Yıldız, Pelin Esmeray Şenol, Emine Nur Sunar Yayla, Merve Tanıdır, Nuran Belder, Batuhan Küçükali, Sevcan A Bakkaloğlu","doi":"10.5152/TurkArchPediatr.2023.23100","DOIUrl":"10.5152/TurkArchPediatr.2023.23100","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10724743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9974678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vaccination Status in Children with Chronic Diseases: Are They Up-to-Date for Mandatory and Specific Vaccines?","authors":"Kübra Yırgın, Emel Gür, Tuğba Erener-Ercan, Günay Can","doi":"10.5152/TurkArchPediatr.2023.23101","DOIUrl":"10.5152/TurkArchPediatr.2023.23101","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study is to investigate the immunization coverage for mandatory and specific vaccines in a group of children with chronic diseases.</p><p><strong>Materials and methods: </strong>Children with chronic diseases aged 6 months to 18 years who were followed up by outpatient subspecialty clinics of a tertiary hospital were enrolled. Children who were up-to-date and who were under-vaccinated were compared with respect to demographic characteristics, parental educational status, healthcare providers' attitudes toward vaccination, age at the time of diagnosis, and duration of follow-up.</p><p><strong>Results: </strong>A total of 366 patients with variable chronic diseases were enrolled. Of these, 84.7% were up-to-date for the mandatory vaccines. This rate was 99.5% for the primary series of diphtheria-tetanus-acellular pertussis and 98.9% for the first dose of measles-mumps-rubella vaccines. Vaccination coverage for specific vaccines was low (13.9% for influenza and 55% for conjugated pneumococcal vaccine). Being older at the time of diagnosis increased the likelihood of being up-to-date for mandatory vaccines by 1.1 times, while being followed up from multiple subspecialty outpatient clinics and attendance to private doctors' clinics for vaccination increased the likelihood of being up-to-date for specific vaccines by 19.1 and 6.4 times, respectively.</p><p><strong>Conclusion: </strong>In this study, immunization coverage for mandatory vaccines was comparable to that of the general population. However, vaccination coverage was low for specific vaccines. Therefore, efforts of prioritization of pediatric immunizations and raising awareness among healthcare providers about the impact of medical recommendations for specific vaccines among children with chronic diseases can help to improve vaccination rates.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10724782/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71430030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Temporary Thyroid Dysfunction and Catecholamine Excess Due to Mercury Poisoning in 6 Cases.","authors":"Yavuz Özer, Mehmet Yıldız, Hande Turan, Aydilek Dağdeviren Çakır, Gürkan Tarçın, Dilek Bingöl Aydın, Elvan Bayramoğlu, Fatih Haşlak, Sezgin Şahin, Amra Adrovic, Kenan Barut, Olcay Evliyaoğlu, Özgür Kasapçopur, Oya Ercan","doi":"10.5152/TurkArchPediatr.2023.23150","DOIUrl":"10.5152/TurkArchPediatr.2023.23150","url":null,"abstract":"<p><strong>Objective: </strong>Mercury poisoning is a condition with multiple-organ dysfunction that has effects on the central nervous system, gastrointestinal system, cardiovascular system, skin, lungs, and kidneys. It can be fatal or may result in sequelae such as neurological disturbances, if treated late or left untreated. The endocrinological effects of mercury exposure are not well-known. We aimed to evaluate patients with mercury poisoning.</p><p><strong>Materials and methods: </strong>A total of 6 cases of mercury poisoning from 3 families were included in the study. Clinical, laboratory, and follow-up data were recorded.</p><p><strong>Results: </strong>Thyroid dysfunction was presented as high thyroid hormones and normal thyrotropin level (unsuppressed) in 5 cases (83.3%). On the other hand, pheochromocytoma-like syndrome was detected in 5 cases (83.3%) with hypertension. The 4 cases were the first to use methimazole for mercury poisoning due to tachycardia and hypertension despite antihypertensive treatment due to catecholamine excess and thyroid dysfunction. Hyponatremia was detected in 3 cases (50%).</p><p><strong>Conclusion: </strong>Mercury poisoning is difficult to diagnose because it is rare and presents with nonspecific physical and laboratory findings. Early diagnosis and providing appropriate treatment are essential in order to prevent sequelae. Mercury poisoning should be considered in patients with unexplained hypertension and tachycardia suggesting the involvement of thyroid hormones and catecholamines.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10837518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41223022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lymphoproliferation, Autoimmunity, and Recurrent Infections: Which Primary Immunodeficiency?","authors":"Gökcan Öztürk, Şule Haskoloğlu, Nazlı Deveci, Hasret Erkmen, Nur Ayça Çelik, Gülsan Sucak, Serdar Ceylaner, Aydan İkincioğulları, Figen Doğu","doi":"10.5152/TurkArchPediatr.2023.23157","DOIUrl":"10.5152/TurkArchPediatr.2023.23157","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10837574/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41164680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Approach to Rickets: Is It Calciopenic or Phosphopenic?","authors":"Sema Nilay Abseyi,&nbsp;Zeynep Şıklar","doi":"10.5152/TurkArchPediatr.2023.23050","DOIUrl":"10.5152/TurkArchPediatr.2023.23050","url":null,"abstract":"<p><p>Rickets is a childhood disorder of decreased mineralization of bone tissue. It is either calciopenic or phosphopenic, according to the deficient mineral. Calcium, phosphate, and vitamin D metabolism should be known to understand the pathophysiology of rickets. A deficiency of calcium or vitamin D can be caused by several conditions. These conditions lead to defective osteoid mineralization, impaired chondrocyte differentiation, and apoptosis in the growth plate, resulting in clinical and radiological findings of rickets. Rickets developing as a result of vitamin D deficiency is the most frequently encountered form. Vitamin D-dependent rickets classification is made according to genetic abnormalities of enzymes that are involved in vitamin D metabolism. Phosphopenic rickets is divided mainly into 2 categories that are FGF23 related or not. A systemic approach that includes a detailed history, physical examination, and laboratory evaluation is required when performing a diagnostic evaluation. Vitamin D and calcium supplementation should be used to treat nutritional rickets. To prevent rickets and its morbidities, vitamin D prophylaxis in the newborn period is suggested. High dose of vitamin D3, 1.25(OH)2D, and calcium are treatment choices in vitamin D-dependent rickets according to its subgroup. If conventional treatment consisting of phosphate and calcitriol is ineffective in the treatment of phosphopenic rickets, Burosumab is the new treatment option.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/44/c3/tap-58-5-458.PMC10543743.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10214498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Massive Elevation of CA-125 in Chylous Ascites.","authors":"Tuğçe Merve Orbay,&nbsp;Serdar Moralıoğlu,&nbsp;Nevzat Aykut Bayrak,&nbsp;Ayşenur Celayir","doi":"10.5152/TurkArchPediatr.2023.23015","DOIUrl":"10.5152/TurkArchPediatr.2023.23015","url":null,"abstract":"555 Chylous ascites is a rare condition in children characterized by leakage of triglycerides and low density lipoprotein (LDL)-rich lymphatic fluid into the peritoneal cavity. Primary chylous disorders are most frequently caused by congenital lymphatic dysplasias or lymphatic malformations. In the treatment strategy, it is essential to first drain the fluid with recurrent paracentesis, stop enteral nutrition, and start parenteral nutrition and then continue the nutrition with foods containing medium-chain fatty acids.1,2 CA-125 is a high-molecularweight glycoprotein, originating from the coelomic epithelium. It is elevated in the majority of patients with epithelial ovarian cancer. It has also been shown to be elevated in lymphoma, leukemia, and gastrointestinal system malignancies.3-5 In this paper, it was aimed to present a child with isolated chylous ascites and CA-125 elevation without any malignancy or additional disease.","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bb/c9/tap-58-5-555.PMC10544505.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10214500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey.","authors":"Dilek Uludağ Alkaya,&nbsp;Birol Öztürk,&nbsp;Aylin Yüksel Ülker,&nbsp;Serdar Bozlak,&nbsp;Esra Öztürk,&nbsp;Reyhan Dedeoğlu,&nbsp;Ayşe Güler Eroğlu,&nbsp;Funda Öztunç,&nbsp;Beyhan Tüysüz","doi":"10.5152/TurkArchPediatr.2023.23041","DOIUrl":"10.5152/TurkArchPediatr.2023.23041","url":null,"abstract":"<p><strong>Objective: </strong>Congenital heart defects occur in approximately 50% of children with Down syndrome and they contribute considerably to morbidity and mortality. The aim of this study is to investigate the prevalence, classification, and survival of congenital heart defects in Down syndrome.</p><p><strong>Materials and methods: </strong>About 1731 Down syndrome patients who underwent echocardiography between 1986 and 2022 were evaluated. The median follow-up duration was 8.7 years (range 1-35.8 years). Congenital heart defect was grouped as cyanotic and acyanotic.</p><p><strong>Results: </strong>Among the 1731 patients, 52.1% had congenital heart defects. Congenital heart defect was significantly more common in females than males. The most common cardiac defect was ventricular septal defect (35%), followed by atrial septal defect (31.8%), atrioventricular septal defect (23.4%), tetralogy of Fallot (5%), and patent ductus arteriosus (3.6%). In the follow-up, 43.2% of atrial septal defect, 17.8% of ventricular septal defect, and a total of 20% of congenital heart defects were closed spontaneously. About 34.4% of congenital heart defect was corrected by cardiac surgery/intervention. Five-year survival rate was 97.4% in patients without congenital heart defects, whereas it was 95.6% in mild congenital heart defects and 86.1% in moderate to severe congenital heart defects. There was no relationship between consanguinity, parental age, maternal disease, folic acid supplementation before/during pregnancy, gestational age, birth weight, and congenital heart defects. Neuromotor development was similar in patients with and without congenital heart defects.</p><p><strong>Conclusion: </strong>We demonstrated that almost half of the patients had congenital heart defects; ventricular septal defect was the most common congenital heart defect type. This study is valuable in terms of the largest single-center study describing the classification, prognostic factors, and survival of Down syndrome patients with congenital heart defect from Turkey.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7c/2e/tap-58-5-473.PMC10544380.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10150350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenylketonuria: A Scoring System for Brain Magnetic Resonance Imaging.","authors":"Derya Bako,&nbsp;Kısmet Çıkı","doi":"10.5152/TurkArchPediatr.2023.23081","DOIUrl":"10.5152/TurkArchPediatr.2023.23081","url":null,"abstract":"<p><strong>Objective: </strong>The purpose of our study was to devise a new brain Magnetic Resonance Imaging (MRI) scoring system based on the Loes and modified Loes scores in phenylketonuria (PKU) patients.</p><p><strong>Materials and methods: </strong>The brain MRI scans of patients with late diagnosed PKU were evalu- ated retrospectively. Patients' age at diagnosis, age at which diet started, age at MRI, and, blood phenylalanine (Phe) levels at the time point closest to the MRI were recorded.</p><p><strong>Results: </strong>Eleven patients aged from 3 to 28 years were included in the study. The median MRI involvement score was 17 (interquartile range = 3). The most involved white matter areas were the parietooccipital areas. There was a significant (P = .046) correlation between the blood Phe level at the timepoint closest to the imaging and the MRI involvement score.</p><p><strong>Conclusion: </strong>Our study provides insights into the MRI findings and scoring system in PKU patients. We have developed a scoring system based on the widely used Loes and modified Loes scoring systems that can be implemented in clinical practice. Also, our study contributes to the long-forgotten and largely abandoned area-imaging findings in late diagnosed and untreated PKU patients and set the stage for the future research in this field.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/88/74/tap-58-5-519.PMC10544386.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10159233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Level of Inflammatory Markers and Their Relationship with Fat Tissue Distribution in Children with Obesity and Type 2 Diabetes Mellitus.","authors":"Beyza Akalın Ertürk,&nbsp;Özlem Gülbahar,&nbsp;Seda Kaynak Şahap,&nbsp;Tuba Saadet Deveci Bulut,&nbsp;Semra Çetinkaya,&nbsp;Şenay Savaş Erdeve","doi":"10.5152/TurkArchPediatr.2023.22288","DOIUrl":"10.5152/TurkArchPediatr.2023.22288","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to determine the changes in proinflammatory and anti-inflam- matory markers in children aged 10-18, who were not diagnosed with type 2 diabetes mel- litus, were obese/overweight, and children with type 2 diabetes mellitus. In addition, we aimed to investigate whether these markers were associated with clinical and laboratory parame- ters, subcutaneous adipose tissue, preperitoneal adipose tissue, visceral adipose tissue, and hepatosteatosis.</p><p><strong>Materials and methods: </strong>Children between the ages of 10 and 18, obese/overweight, with type 2 diabetes mellitus, and with a normal body mass index were included. Fat tissue thick- ness was measured. Tumor necrosis factor-α, interleukin-1β, interleukin-6, interleukin-18, and interferon-γ as proinflammatory markers and transforming growth factor-β and interleukin-10 levels as anti-inflammatory markers were studied.</p><p><strong>Results: </strong>Twenty-eight (31.8%) controls, 44 (50%) obese/overweight, and 16 (18.2%) patients with type 2 diabetes mellitus were included in our study. Age, sex, and puberty were similar between the groups. In the type 2 diabetes mellitus group, the subcutaneous fat tissue thick- ness was higher than that in the obese group, and the preperitoneal and visceral fat tissue thicknesses were similar to those in the obese group. Proinflammatory markers and interleu- kin-10 levels were similar in the obese/overweight, type 2 diabetes mellitus, and control groups. Transforming growth factor-β levels were significantly lower in the type 2 diabetes mellitus group than in the control group (P = .039). Transforming growth factor-β levels and other labo- ratory variables did not differ significantly in the type 2 diabetes mellitus group.</p><p><strong>Conclusion: </strong>While there was no change in all markers in the obese/overweight group com- pared with the control group, proinflammatory markers in the type 2 diabetes mellitus group were similar to those in the obese/overweight and control groups, and transforming growth factor-β level, an anti-inflammatory marker, was lower in the type 2 diabetes mellitus group than in the control group.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6d/70/tap-58-5-485.PMC10543068.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10513529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The First Familiar Case of PTEN-Related Disorder Reported in Albania.","authors":"Donjeta Bali,&nbsp;Mirela Tabaku,&nbsp;Agim Gjikopulli,&nbsp;Virtut Velmishi,&nbsp;Behar Tocilla,&nbsp;Anila Godo,&nbsp;Paskal Cullufi","doi":"10.5152/TurkArchPediatr.2023.23093","DOIUrl":"10.5152/TurkArchPediatr.2023.23093","url":null,"abstract":"559 PTEN hamartoma tumor syndromes (PHTS) are a group of genetic disorders inherited in an autosomal dominant manner and linked to the germ line of the tumor suppressor gene PTEN located on 10q23 (OMIM 601728).1-4 The PHTS, characterized by a broad, extremely variable, and often overlapping spectrum of clinical features, comprises different disorders such as Cowden syndrome (CS, OMIM 158350), Banna yan-R ileyRuval caba syndrome (BRRS, OMIM 153480), PTEN-related Proteus syndrome (OMIM 176920), and PTEN-related Proteuslike syndrome.1-4 The PTEN germline mutations have also been described in ∼10%-20% of those with macrocephaly and autism spectrum disorder (ASD), as well as in a few cases of megalencephaly and hemimegalencephaly, and VATER syndrome (vertebral abnormalities, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia).1-3,5","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a5/89/tap-58-5-559.PMC10543923.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10150351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}